Lived Experiences of Patients with Epidermolysis Bullosa: A Rare Genetic Skin Disease

Overview

Journal Health SA

Date 2025 Jan 17

PMID 39822893

Authors

Antoinette V Chateau

David Blackbeard

Colleen Aldous

Ncoza Dlova

Cassidy-Mae Shaw

Affiliations

Soon will be listed here.

Abstract

Background: Epidermolysis bullosa (EB) is a rare genodermatosis that results in extreme skin fragility, for which there is no cure and may be fatal. The quality of life of patients affected may be greatly impacted.

Aim: This study aims to understand the lived experiences of patients with EB.

Setting: Intensive semi-structured interviews were conducted with three participants via Zoom, and a follow-up member checking session was held in person at the RARE-X conference.

Methods: This qualitative research used interpretative phenomenological analysis with the aim of understanding the lived experiences of patients with EB. Semi-structured interviews were conducted with three participants using Lincoln and Guba's framework of trustworthiness was used to ensure rigour.

Results: Three adult participants shared in-depth experiences of living with EB. Four themes with subthemes were identified: (1) medical damages, (2) development trajectory, (3) subjective well-being and life satisfaction and (4) sources of resilience and support.

Conclusion: Epidermolysis bullosa affected all developmental stages of life, impacting them physically, emotionally, socially and financially. They shared their concerns relating to a lack of knowledge of healthcare practitioners (HCPs) in managing their illness and society for judging their condition. There is a need for comprehensive biopsychosocial care of patients and their families, as well as continued medical education for HCPs and awareness of society regarding this debilitating condition.

Contribution: To our knowledge, this is the first study in Africa focused on the lived experiences of patients with EB. This highlights the physical, psychosocial and financial challenges that patients with rare diseases encounter in our local setting.

References

Plumridge G, Metcalfe A, Coad J, Gill P . Parents' communication with siblings of children affected by an inherited genetic condition. J Genet Couns. 2011; 20(4):374-83. DOI: 10.1007/s10897-011-9361-1. View

Fine J, Johnson L, Weiner M, Suchindran C . Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size. Br J Dermatol. 2005; 152(5):1009-14. DOI: 10.1111/j.1365-2133.2004.06339.x. View

Kearney S, Donohoe A, McAuliffe E . Living with epidermolysis bullosa: Daily challenges and health-care needs. Health Expect. 2019; 23(2):368-376. PMC: 7104643. DOI: 10.1111/hex.13006. View

Lewis C, Wickstrom G, Kolar M, Keyserling T, Bognar B, DuPre C . Patient preferences for care by general internists and specialists in the ambulatory setting. J Gen Intern Med. 2000; 15(2):75-83. PMC: 1495342. DOI: 10.1046/j.1525-1497.2000.05089.x. View

Pope E, Lara-Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R . A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012; 67(5):904-17. PMC: 3655403. DOI: 10.1016/j.jaad.2012.01.016. View

Mauritz P, Jonkman M, Visser S, Finkenauer C, Duipmans J, Hagedoorn M . Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents. Acta Derm Venereol. 2019; 99(9):783-788. DOI: 10.2340/00015555-3179. View

Grocott P, Blackwell R, Weir H, Pillay E . Living in dressings and bandages: findings from workshops with people with Epidermolysis bullosa. Int Wound J. 2012; 10(3):274-84. PMC: 7950808. DOI: 10.1111/j.1742-481X.2012.00973.x. View

Fine J, Mellerio J . Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009; 61(3):367-84. DOI: 10.1016/j.jaad.2009.03.052. View

Chateau A, Aldous C, Dlova N, Blackbeard D . 'It breaks my heart': Healthcare practitioners' caring for families with epidermolysis bullosa. Health SA. 2023; 28:2355. PMC: 10623493. DOI: 10.4102/hsag.v28i0.2355. View

10.

Williams E, Gannon K, Soon K . The experiences of young people with Epidermolysis Bullosa Simplex: a qualitative study. J Health Psychol. 2011; 16(5):701-10. DOI: 10.1177/1359105310387954. View

11.

Schrader N, Korte E, Duipmans J, Stewart R, Bolling M, Wolff A . Identifying Epidermolysis Bullosa Patient Needs and Perceived Treatment Benefits: An Explorative Study Using the Patient Benefit Index. J Clin Med. 2021; 10(24). PMC: 8709493. DOI: 10.3390/jcm10245836. View

12.

Martin K, Geuens S, Asche J, Bodan R, Browne F, Downe A . Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. Orphanet J Rare Dis. 2019; 14(1):133. PMC: 6560722. DOI: 10.1186/s13023-019-1086-5. View

13.

Schrader N, Yuen W, Jonkman M . Pain Quality Assessment Scale for Epidermolysis Bullosa. Acta Derm Venereol. 2017; 98(3):346-349. DOI: 10.2340/00015555-2827. View

14.

van Scheppingen C, Lettinga A, Duipmans J, Maathuis C, Jonkman M . Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviews. Acta Derm Venereol. 2008; 88(2):143-50. DOI: 10.2340/00015555-0376. View

15.

Chernyshov P, Tomas-Aragones L, Manolache L, Pustisek N, Darlenski R, Marron S . Bullying in persons with skin diseases. J Eur Acad Dermatol Venereol. 2023; 38(4):752-760. DOI: 10.1111/jdv.19683. View

16.

Budych K, Helms T, Schultz C . How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction. Health Policy. 2012; 105(2-3):154-64. DOI: 10.1016/j.healthpol.2012.02.018. View

17.

Dures E, Morris M, Gleeson K, Rumsey N . The psychosocial impact of epidermolysis bullosa. Qual Health Res. 2011; 21(6):771-82. DOI: 10.1177/1049732311400431. View

18.

Chateau A, Blackbeard D, Aldous C . The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review. Int J Dermatol. 2022; 62(4):459-475. DOI: 10.1111/ijd.16197. View

19.

Angelis A, Kanavos P, Lopez-Bastida J, Linertova R, Oliva-Moreno J, Serrano-Aguilar P . Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe. Eur J Health Econ. 2016; 17 Suppl 1:31-42. PMC: 4869727. DOI: 10.1007/s10198-016-0783-4. View

20.

Chateau A, Gqaleni N, Aldous C, Dlova N, Blackbeard D . A qualitative study on traditional healers' perceptions and management of epidermolysis bullosa. Health SA. 2023; 28:2266. PMC: 10476505. DOI: 10.4102/hsag.v28i0.2266. View